Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC p.Arg687= (p.R687=)
(
ENST00000285021.12 )
XPC p.Arg687= (p.R687=) ( ENST00000285021.12 ) - Associated Disease
- xeroderma pigmentosum group A
- Source Database
- ClinVar
- Description
- NM_004628.5(XPC):c.2061G>A (p.Arg687=) AND Xeroderma pigmentosum group A
- ClinVar Allele ID
- 139208
- ClinVar RefSeq Alternation Syntax
- NM_001354726.2:c.1482G>A
- ClinVar RefSeq Alternation Syntax
- NR_148950.2:n.1933G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354730.2:c.1815G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354729.2:c.2043G>A
- ClinVar RefSeq Alternation Syntax
- NM_004628.5:c.2061G>A
- ClinVar RefSeq Alternation Syntax
- NR_148951.2:n.1809G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354727.2:c.2055G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315790
- ClinVar Disease
- Xeroderma pigmentosum group A
- Observed Origin Sample
- germline
Drugs